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Program & Proposal
An ally organization of

Programs and Proposal
PROPOSAL ON

MUSCULAR DYSTROPHY AWARENESS PROGRAMME
&
ESTABLSHMENT OF REHABILITATION SERVICE CENTER
IN NEPAL

Parent Project Muscular Dystrophy
Man Bhawan – 5, Lalitpur, Nepal
GPO 8975 EPC 2488 (Lalitpur)
Phone:977-1-5546984
email: info@parentprojectmd.org.np
January 2003
VISION
  Social support system with utmost self-reliance.
MISSION
  Establishment of nation-wide awareness of the disease, rehabilitation activities and alignment with latest development.
OBJECTIVE
 
  • To conduct awareness programmes in different parts of Nepal.
  • To identify the cases or families in Nepal.
  • To diagnose and attend to muscular dystrophies (MD)cases.
  • To provide rehabilitation for the MD cases.
  • To conduct medical researches on MD cases.
Muscular Dystrophy
INTRODUCTION
  As the name suggests, Muscular Dystrophy is a disease that affects the muscles of an individual. Muscular Dystrophies are not a single but a group of diseases that have designates to a group of muscle destroying disorders. These diseases vary in hereditary pattern, age of onset, initial muscles affected and rate of progression. However this group of diseases has three features in common:
· They are progressive
. Each causes a characteristic
· There is a selective pattern of weakness.
At present there are such types of Muscular Dystrophies that have been identified, mostly they are:

1. Myotonic: also known as Steinert's disease, the most common adult form of muscular dystrophy.
2. Duchenne: the most common childhood form of muscular dystrophy.
3. Becker: similar to Duchenne, but with later appearance and slower progression.
4. Limb Girdle: with onset typically in adolescence or early adulthood.
5. Fascioscapulohumeral: whose name identifies the first muscles affected.
6. Congenital: a group of diseases with symptoms noted from birth.
7. Oculopharyngeal: meaning eye and throat, usually starting with drooping eyelids, most often -in 40's or 50's.
8. Distal: a group of rare muscle disease with weakness of the distal (farthest from the center) muscles for the forearms, hands, lower legs and feet.
9. Emery-Dreifuss: which causes devel­opment of contractures in childhood and life threatening heart problems.

Among all these types of muscular dystrophies, Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) are the most common.
DMD, which mainly affects a male child, is caused by the lack of protein called Dystrophin in the gene. This is a lethal genetic disorder, affecting one in every 3,500 children. It is reported that each day two people with DMD die worldwide. It is the most devastating of the muscular dystrophies with rapidly progressive muscle weakness, which results in the loss of walking at a very young age gradually leading the person to become wheel chair bound. During the years the patient develops joint contractures, spinal deformities, respiratory difficulties and cardiac dysfunction leading to an early death usually in their late teens and early twenties.

The disease has three distinct phases:-
Initial Phase (2-6 yrs.): Exhibit symptoms of weakness, the muscle appear enlarged and consists of fibrous and fatty tissues. The most notable are the calf muscles.
Transitional Phase (6-12 yrs.): Demonstratives marked by postural adjustment, frequent falls, increasing muscle weakness and functional loss.
End Phage (15yrs+): Respiratory problems are associated with the end stage. This causes infection within the respiratory system and can lead to death. Cardiac function can also be affected.
There is also the non- Ambulating phase, which may occur between the ages of 8-14 years, where the children with DMD lose the ability to walk.

Becker Muscular Dystrophy (BMD) is similar to DMD but in milder form and usually affects female children. In some cases the symptoms of these disease can be seen late in life.

Despite the seriousness of this disease, there is no cure for it and medical scientists have been researching on it for over decades. Medicines that are currently prescribed for such patients only help in sustaining and providing some strength to the weakening limbs. These medicines are very expensive and only available in developed countries.

   
Mechanism by which the mutations produce DMD/BMD
  Duchenne and Becker's muscular dystrophies are versions of the same disease caused by defects in the same gene. The gene in question, codes for a protein called dystrophin which plays a key role in assembling a group of other proteins at the surface of the muscle fiber. In the absence of dystrophin this group of proteins does not assemble properly and their entire range functions is disrupted, making the muscle fiber more than normally susceptible to a variety of traumas.

Every person has a pair of 23 chromosomes in each of their cells. Females have a pair of X chromosomes while the males have an X and a Y. The faulty gene is carried in the X chromosome. Therefore if the X chromosome in a boy is a faulty one then it will not be able to produce dystrophin and thus will be affected by the disease. But since girls have another X chromosome, dystrophin can be produced by it and thus they can be carriers but not affected by the disease. However, in some cases where one of the X chromosomes are affected, the good X chromosome becomes inactive and the girl is also affected by the disease.

It can be inferred that if a mother is a carrier, her female children have a 50'/o chance of carrying the gene also and the male children have a 50% chance of having the disease.

The situation in Nepal and establishment of PPMD
  In Nepal, muscular dystrophy is completely new to all, including health organizations and general medical professionals. We don't have centers in this field thus there is no scope for proper diagnosis. Generally, medical professionals and institutions do not have facilities to cater to such patients.
Medication is not available in the market and there is absolutely no support from any agencies, either governmental or non-governmental.
The government or health organizations do not have records on how many people are suffering from this disease. There is no official or unofficial data regarding such cases in the country. The only form of data that is available at present is the one with PPMD. PPMD have identified such patients around the country but believe there to be more. We are getting information on new cases from various parts of the country on a regular basis.
Moreover, there is a general lack of awareness among the parents, general public, general medical professionals, institutions, government and non government organizations. Given the international scenario where for DMD alone, on an average, one out of 3,500 children is affected by this disease, it is assumed that Nepal may also show similar situation. However due to the lack of awareness, there are no records to attest the assumption. The available records have shown a few cases where several children from the same family have been affected. This has made matters more worrying as there is a fear that the situation in Nepal might be worse than imagined.
In view of these, parents of DMD/BMD (Duchenne /Becker Muscular Dystrophy) children got together to provide awareness and support in Nepal. PPMD was thus formed and registered with HMG/N and Social Welfare Council as a non-profit organization. Ever since its formation, PPMD has been maintaining records, raising issues with various government and non-government organizations, campaigning and keeping regular contact with national international organizations.
Despite the enormity and the severity of the disease, little has been done in the country and it is of utmost importance that actions be taken now. In this respect, with the effort of this center, Doctor J.P. Agrawal (Consulatnt Neuro-Physician) and Doctor Rohit Pokharel (PhD.Orthopedic) from Tribhuvan University Teaching Hospital (TUTH) Maharajganj has played a leading role to take the initiative to offer medical counselling and help. The center sees rays of hope for the future benefit of the patients after his entry.
MODUS OPERANDI
 
EDUCATIONAL
 
  • Parent.
  • Patient.
  • General Public.
  Parent Education
  Primarily the parents of both the affected as well as the unaffected children are educated on the various aspects of the disease. Once the parents are made fully aware of these aspects, they are supplied with different approaches towards the disease, depending upon the cases. The parents are guided and trained in such a way that they play the major role in the support system in the later phase.
  Patient Education
  Primarily the mental aspect of the patients are focussed. Efforts are made to discover the wide range of skills that are latent in the patients. The patients are then motivated to develop greater will power to progress with their skills and live a happy life as any other normal beings.
  General Public
  Since the disease is part of the center and happening around us, it is very vital to note that the disease may be traced in any family around us, hence, individual struggle in this regard is impossible. As such the general public at large should take keen interest in the subject and cater whatever services possible in this regard.
  These can be attained through the following means:
 
  • Video shows
  • talk programs
  • seminar/workshops (symposium)
  • publications/broadcasting
PROFESSIONAL NEED AND SERVICES
A
PHYSIOTHERAPIST/OCCUPATIONAL THERAPIST
  Since the patients are phisically weak and are in need of physio-therapy which is the best possible treatment prior to any chemical treatment. Physio-therapy plays a vital role in the toning of the muscles and bringing about the motions in the limbs of the patients which is why it is regarded as the most prominent method of treatment till date.

Other aspects that are found defective in the patients are speech and respiration system. To attend to this problem, the occupational therapists are actively involved. Their effort are directed towards rectifying these defects.

B
PHYSICIANS
  The experts such as neurologist, pulmonary physician, cardiologist and rehabilitation physicians are made available to the patients to attend to their needs on case to case basis regularly.
C
ORTHOPEDIC/ SURGEON
  Time to time treatment of the skeletal parts of the patients are attended by theses experts to meet the need for easy movements of their limbs as well as their body by initiating operation procedures, performing contractures and tendons, spinal curvatures etc.
D
GENETIC COUNSELOR
  These experts study the family tree and trace the historical settings of the disease. The family with high probability of the disease are able to take preventive measures with the aid of the genetic counselors
E
OTHER PROFESSIONALS
  Other professionals and other counselors that are involved in the process are anesthetists, nutritionists, psychologists and psycho-sociologists, educational professionals, health professionals and family counselors for better and comfortable life on regular basis.
F
NURSES
  Nursing basically starts from the parents. The parents are guided in this matter to provide better care to their children. Hence, they are treated as internal nurses. For the comfort of the patients the center also provides the external nurses who are not at all related to the patients but professionals.
G
ADMINISTRATIVE STAFFS
  To operate and maintain the finance, accounts and various activities, the center has several administrative staffs.
   
MEDICINES AND SUPPLEMENTS
  Despite efforts of medical research on DMD/BMD for a long time, there still is no medicine to cure the disease. The medicine that is available at present provides support to the patients by strengthening the weakening limbs. In some cases such medicines have helped patients to use their limbs for a few years than they would have had they not consumed the medicine. Medicines along with the supplements such as minerals, calcium, magnesium, vitamin D etc. prevent other problems from damaging the internal system of the patient, thus reducing the chances of death.

However such medicines and supplements are not available in the local market and have to be imported from either Europe or USA. The medicines that are commonly used in Europe are Deflazacort, Calcort and Flatadine. In the USA, the common medicine is Prednisone. These medicines are very expensive making it difficult for ordinary people in Nepal to pay for it. The fact that they have to be taken on a regular basis, makes it even more difficult and unaffordable.
   
MATERIALS
A
EDUCATIONAL MATERIALS
  Research reports on the latest discoveries around the world and awareness programmes and activities to be conducted through posters, pamplets and audio/visual aides.
B
PHYSIOTHERAPY EQUIPMENTS/ ORTHOPEDIC DEVICES/ WHEEL CHAIRS
  Different types of MD cases need wheel chair for mobility and different types of equipments for the physiotherapy, ventilator (respiratory) and orthopedic devices for patients like AFO, KAFO, NIGHT SPLINTS, and BELTS etc.
C
LAND AND BUILDING
  Since the rehabilitation process is going to be a continuing one and ultimately beneficial to the future generations in a whole, the center urgently requires land and building (block-wise) to facilitate the various activities that the center envisions.

The blocks would be as follows:
1. Rehabilitation and Medical Counselling block
2. Educational block (special school)
3. Health/Fitness block (sports)
4. Administation block

D
FURNITURE AND FIXTURES
  The center requires beds, chairs, tables, carpet and electrical fittings to smoothen the operation.
E
VEHICLE
  For the transportation of the needy patients along with the poverty stricken parents, vehicle is a necessity. It also facilitates the quick mobility of the experts that are required for the tretment of the patients and other activities of the center.
F
MISCELLANEOUS
  The center needs various other office equipment's like computers, printer, scan machine, calculator, punching machine, telephone, fax etc. to aid the daily operation of the center.
 
  (Note :For more information, Please contact office address or email on : mdds_Nepal@mail.com)